Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Genetic Lingo01:11

Genetic Lingo

Overview
CRISPR01:59

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

International journal of neonatal screening·2026
Same author

Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.

Pediatrics international : official journal of the Japan Pediatric Society·2025
Same author

Siblings of hyaline fibromatosis syndrome with accumulation of sulfatide and G<sub>M3</sub> ganglioside in addition to ceramide.

Pediatrics international : official journal of the Japan Pediatric Society·2025
Same author

Genetic and Molecular Insights into the Links Between Heat Stroke, Alzheimer's Disease, and Down Syndrome: A Mini-Review.

Genes·2025
Same author

Multidisciplinary Management of Plexiform Neurofibromas in Pediatric Patients With Neurofibromatosis 1: Insights From Advisory Board-Guided Clinical Experience in Japan.

The Journal of dermatology·2025
Same author

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study.

Neurology and therapy·2025

相关实验视频

Updated: Jun 14, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.8K

编辑:特别号"新生儿基因查"

Hisahide Nishio1, Hiroyuki Awano2

  • 1Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan.

Genes
|September 27, 2025
PubMed
概括
此摘要是机器生成的。

新生儿查 (NBS) 使用先进的技术来测量用于早期疾病检测的生物标志物. 这确保了新生儿的及时诊断和干预,改善了健康结果.

更多相关视频

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.5K

相关实验视频

Last Updated: Jun 14, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.8K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.5K

科学领域:

  • 生物化学 生物化学
  • 遗传学 遗传学 是一个
  • 儿科 儿科 儿科

背景情况:

  • 新生儿查 (NBS) 是一个公共卫生计划.
  • 早期发现遗传和代谢疾病至关重要.

研究的目的:

  • 概述新生儿查当前的方法.
  • 突出生物标志物测量在诊断先天性疾病中的重要性.

主要方法:

  • 使用最先进的技术进行生物标志物分析.
  • 采用定量和定性测量技术.
  • 专注于疾病特异性标记物.

主要成果:

  • 识别了一系列可治疗的遗传和代谢疾病.
  • 能够进行早期干预,防止严重的健康并发症.
  • 证明了当前NBS协议的有效性.

结论:

  • 传统的NBS在检测许多先天性疾病方面是有效的.
  • 技术进步提高了NBS的准确性和范围.
  • 持续优化NBS对于婴儿健康至关重要.